title: No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.
abstract: OBJECTIVE
  The objective of this study was to evaluate the mutational spectrum of NLRP7 and KHDC3L (C6orf221) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM.
  
  
  METHODS
  We recruited 16 women with suspected recurrent and sporadic AnCHM and five women with suspected BiHM in addition to their reproductive partners into our study. We then sequenced the coding exons of NLRP7 and KHDC3L from DNA isolated from either blood or saliva from the study subjects.
  
  
  RESULTS
  Sequence analysis of NLRP7 and KHDC3L revealed previously described single nucleotide polymorphisms in patients with AnCHM. However, in patients with BiHM, we identified a novel homozygous mutation and a previously described intragenic duplication of exons 2 to 5 in NLRP7, both of which are likely to be disease causing. We did not identify mutations in KHDC3L in patients with either form of hydatidiform moles.
  
  
  CONCLUSIONS
  The absence of mutations in women with AnCHM supports a role for NLRP7 or KHDC3L in BiHM only. The absence of mutations in KHDC3L in women with BiHM is consistent with its minor role in this disease compared with NLRP7, the major BiHM gene.
authors.affiliation: Interdepartmental Graduate Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Mahadevan
authors.forename: Shu
authors.initials: S
authors.lastname: Wen
authors.forename: Alfred
authors.initials: A
authors.lastname: Balasa
authors.forename: Gary
authors.initials: G
authors.lastname: Fruhman
authors.forename: Julio
authors.initials: J
authors.lastname: Mateus
authors.forename: Andrew
authors.initials: A
authors.lastname: Wagner
authors.forename: Tarek
authors.initials: T
authors.lastname: Al-Hussaini
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: Van den Veyver
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D040582:Inheritance Patterns / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011506:Proteins / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C568062:KHDC3L protein, human; C502448:NLRP7 protein, human; D011506:Proteins